Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Kdsr'

377226

Institutional Source

Beutler Lab

Gene Symbol

Kdsr

Ensembl Gene

ENSMUSG00000009905

Gene Name

3-ketodihydrosphingosine reductase

Synonyms

9430079B08Rik, 6330410P18Rik, Fvt1

MMRRC Submission

042495-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R4890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106648189-106687457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106680964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 78 (K78R)

Ref Sequence

ENSEMBL: ENSMUSP00000010049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010049]

AlphaFold

Q6GV12

Predicted Effect

probably benign
Transcript: ENSMUST00000010049
AA Change: K78R

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: K78R

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:KR	33	214	9.4e-16	PFAM
Pfam:adh_short	33	232	1.1e-59	PFAM
Pfam:adh_short_C2	39	217	5.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187617

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	C	1: 130,668,725 (GRCm39)		probably benign	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,260,908 (GRCm39)	N916S	probably damaging	Het
Aox1	T	C	1: 58,373,862 (GRCm39)	V841A	probably benign	Het
Baz2b	A	T	2: 59,756,383 (GRCm39)	M983K	probably damaging	Het
C2cd2l	A	G	9: 44,222,430 (GRCm39)	F682L	probably damaging	Het
Ccsap	T	G	8: 124,572,160 (GRCm39)	E114A	possibly damaging	Het
Cept1	T	A	3: 106,413,123 (GRCm39)	T201S	probably damaging	Het
Cfap221	T	C	1: 119,883,476 (GRCm39)	M232V	probably benign	Het
Chsy1	A	G	7: 65,759,974 (GRCm39)	R106G	probably benign	Het
Cit	C	T	5: 116,126,182 (GRCm39)		probably benign	Het
Cldn7	G	A	11: 69,857,918 (GRCm39)	V42I	probably benign	Het
Cnnm4	T	A	1: 36,511,345 (GRCm39)	V191E	probably benign	Het
Cntf	A	T	19: 12,741,326 (GRCm39)	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,270,393 (GRCm39)	R263L	probably damaging	Het
Dclk1	T	C	3: 55,429,353 (GRCm39)	M407T	probably benign	Het
Dennd1a	A	T	2: 38,066,238 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,306,164 (GRCm39)	I368V	possibly damaging	Het
Gak	A	T	5: 108,728,742 (GRCm39)		probably benign	Het
Hepacam2	A	T	6: 3,487,231 (GRCm39)	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Insr	T	A	8: 3,248,234 (GRCm39)	Q437L	probably benign	Het
Itga8	G	A	2: 12,198,102 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,233,868 (GRCm39)	C732S	probably benign	Het
Kif14	T	C	1: 136,414,868 (GRCm39)	S785P	possibly damaging	Het
Lbr	C	A	1: 181,645,133 (GRCm39)	L506F	probably benign	Het
Macf1	C	A	4: 123,342,031 (GRCm39)	C2720F	probably damaging	Het
Mapt	G	A	11: 104,218,975 (GRCm39)	D738N	probably damaging	Het
Mroh9	T	C	1: 162,854,093 (GRCm39)	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,762,274 (GRCm39)	N515S	possibly damaging	Het
Myorg	G	A	4: 41,498,877 (GRCm39)	T251M	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,498,308 (GRCm39)	S258C	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,786 (GRCm39)	S87T	possibly damaging	Het
Or52e15	G	A	7: 104,645,311 (GRCm39)	H267Y	probably benign	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Or6c1b	C	T	10: 129,272,948 (GRCm39)	T89I	probably benign	Het
Or6z5	T	A	7: 6,477,848 (GRCm39)	C246*	probably null	Het
Or8c15	G	T	9: 38,120,586 (GRCm39)	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739 (GRCm39)		probably benign	Het
Otud3	G	A	4: 138,641,060 (GRCm39)	R27W	probably damaging	Het
Pcare	C	T	17: 72,059,306 (GRCm39)	V124I	possibly damaging	Het
Pcdhga12	T	A	18: 37,901,290 (GRCm39)	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,894,118 (GRCm39)	E17G	probably damaging	Het
Pramel19	A	G	4: 101,798,788 (GRCm39)	E253G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 48,000,806 (GRCm39)		probably benign	Het
Prokr1	G	A	6: 87,565,678 (GRCm39)	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,957 (GRCm39)	C1731Y	probably damaging	Het
Rbm15b	A	T	9: 106,763,028 (GRCm39)	F380Y	possibly damaging	Het
Rfc5	G	A	5: 117,524,885 (GRCm39)	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rusc1	T	C	3: 88,995,577 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,354,634 (GRCm39)	N297D	probably damaging	Het
Sema3c	A	T	5: 17,880,157 (GRCm39)	H259L	probably benign	Het
Sgsm1	G	A	5: 113,428,328 (GRCm39)		probably benign	Het
Shisal2a	A	G	4: 108,224,998 (GRCm39)	V188A	probably benign	Het
Sipa1l2	T	A	8: 126,218,606 (GRCm39)	S244C	probably damaging	Het
Slc39a5	T	C	10: 128,234,316 (GRCm39)	I196V	probably benign	Het
Smim22	G	A	16: 4,825,722 (GRCm39)	A36T	probably damaging	Het
Spag6	A	G	2: 18,747,588 (GRCm39)	I408V	probably benign	Het
Sult2a5	A	G	7: 13,359,311 (GRCm39)	I96V	probably benign	Het
Tmcc2	C	A	1: 132,308,517 (GRCm39)	A126S	probably benign	Het
Tsc2	A	T	17: 24,819,009 (GRCm39)	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,788,103 (GRCm39)	S843G	probably benign	Het
Tubd1	G	C	11: 86,443,621 (GRCm39)	V110L	possibly damaging	Het
Ugt1a2	T	A	1: 88,128,534 (GRCm39)	V59D	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,697,024 (GRCm39)	R687G	probably damaging	Het
Vsig8	T	A	1: 172,389,142 (GRCm39)	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,646,861 (GRCm39)	Y345*	probably null	Het
Zfp612	T	A	8: 110,816,576 (GRCm39)	C594*	probably null	Het
Zfp940	A	G	7: 29,544,824 (GRCm39)	V361A	probably benign	Het

Other mutations in Kdsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Kdsr	APN	1	106,683,187 (GRCm39)	missense	possibly damaging	0.91
IGL01375:Kdsr	APN	1	106,655,424 (GRCm39)	missense	probably benign	0.06
R0361:Kdsr	UTSW	1	106,675,517 (GRCm39)	missense	probably damaging	0.97
R1051:Kdsr	UTSW	1	106,675,310 (GRCm39)	nonsense	probably null
R1589:Kdsr	UTSW	1	106,662,271 (GRCm39)	splice site	probably null
R1679:Kdsr	UTSW	1	106,680,956 (GRCm39)	missense	probably benign	0.01
R5392:Kdsr	UTSW	1	106,680,971 (GRCm39)	missense	possibly damaging	0.88
R5500:Kdsr	UTSW	1	106,687,374 (GRCm39)	unclassified	probably benign
R5830:Kdsr	UTSW	1	106,675,262 (GRCm39)	missense	possibly damaging	0.89
R5850:Kdsr	UTSW	1	106,683,172 (GRCm39)	critical splice donor site	probably null
R6005:Kdsr	UTSW	1	106,662,311 (GRCm39)	missense	probably benign	0.01
R7515:Kdsr	UTSW	1	106,662,290 (GRCm39)	missense	possibly damaging	0.89
R7841:Kdsr	UTSW	1	106,671,415 (GRCm39)	missense	probably damaging	1.00
R8282:Kdsr	UTSW	1	106,652,727 (GRCm39)	missense	probably benign	0.03
R8312:Kdsr	UTSW	1	106,675,216 (GRCm39)	critical splice donor site	probably null
R8392:Kdsr	UTSW	1	106,671,583 (GRCm39)	missense	probably damaging	1.00
R8507:Kdsr	UTSW	1	106,671,400 (GRCm39)	missense	probably null	1.00
R8933:Kdsr	UTSW	1	106,680,949 (GRCm39)	missense	possibly damaging	0.70
R9531:Kdsr	UTSW	1	106,667,063 (GRCm39)	missense	probably damaging	0.99
R9740:Kdsr	UTSW	1	106,667,126 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCATCTGGTTTCTGTACAGAGAC -3'
(R):5'- GTGACTTACCTGGGCTCTTAGG -3'

Sequencing Primer
(F):5'- CTGTACAGAGACCTGAATTCTAGTC -3'
(R):5'- TACCTGGGCTCTTAGGTGTTTTGC -3'

Posted On

2016-03-17